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Page 1
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
Sajeev M, Chin S, Ho G, Bennetts B, Sankaran BP, Gutierrez B, Devanapalli B, Tolun AA, Wiley V, Fletcher J, Fuller M, Balasubramaniam S. Sajeev M, et al. Among authors: sankaran bp. Int J Neonatal Screen. 2021 May 14;7(2):25. doi: 10.3390/ijns7020025. Int J Neonatal Screen. 2021. PMID: 34069211 Free PMC article.
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Chakrabarty S, Govindaraj P, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P, Mallya S, Deepha S, Ponmalar JNJ, Arivinda HR, Meena AK, Jha RK, Sinha S, Gayathri N, Taly AB, Thangaraj K, Satyamoorthy K. Chakrabarty S, et al. Among authors: sankaran bp. J Neurol. 2021 Jun;268(6):2192-2207. doi: 10.1007/s00415-020-10390-9. Epub 2021 Jan 23. J Neurol. 2021. PMID: 33484326 Free PMC article.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: sankaran bp. Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16. Genet Med. 2021. PMID: 34400813 Free PMC article.
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Guo L, Govindaraj P, Kievit M, de Coo IFM, Gerards M, Hellebrekers DMEI, Stassen APM, Gayathri N, Taly AB, Sankaran BP, Smeets HJM. Guo L, et al. Among authors: sankaran bp. Neuromuscul Disord. 2021 Sep;31(9):859-864. doi: 10.1016/j.nmd.2021.06.014. Epub 2021 Jul 4. Neuromuscul Disord. 2021. PMID: 34419324 Free article.
Child Neurology: Hereditary Folate Malabsorption.
Huddar A, Chiplunkar S, Nagappa M, Govindaraj P, Sinha S, Taly AB, Sankaran BP. Huddar A, et al. Among authors: sankaran bp. Neurology. 2021 Jul 6;97(1):40-43. doi: 10.1212/WNL.0000000000012083. Epub 2021 Apr 23. Neurology. 2021. PMID: 33893200 No abstract available.
Functional network connectivity imprint in febrile seizures.
Acharya UV, Kulanthaivelu K, Panda R, Saini J, Gupta AK, Sankaran BP, Raghavendra K, Mundlamuri RC, Sinha S, Keshavamurthy ML, Bharath RD. Acharya UV, et al. Among authors: sankaran bp. Sci Rep. 2022 Feb 28;12(1):3267. doi: 10.1038/s41598-022-07173-9. Sci Rep. 2022. PMID: 35228583 Free PMC article.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: sankaran bp. Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002. Genet Med. 2022. PMID: 35394429 Free article. No abstract available.
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